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  3. HMGB3
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Structural eye disease

Gene: HMGB3

Amber List (moderate evidence)
HMGB3 (high mobility group box 3)
EnsemblGeneIds (GRCh38): ENSG00000029993
EnsemblGeneIds (GRCh37): ENSG00000029993
OMIM: 300193, Gene2Phenotype
HMGB3 is in 4 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

I don't know

Scott: one family with colobomatours microphthalmia
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
?Microphthalmia, syndromic 13; 300915

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

I don't know

Promoted from red to amber based on the expert review provided.
Created: 25 Apr 2019, 10:04 a.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Scott: one family with colobomatours microphthalmia
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
?Microphthalmia, syndromic 13, 300915

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.75

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Microphthalmia, syndromic 13, 300915
OMIM
300193
Clinvar variants
Variants in HMGB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Apr 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to HMGB3. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

17 Apr 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HMGB3 were changed from ?Microphthalmia, syndromic 13, 300915; Microphthalmia, syndromic 13, 300915 to ?Microphthalmia, syndromic 13, 300915

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HMGB3. Mode of inheritance for gene HMGB3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes ?Microphthalmia, syndromic 13, 300915 for gene: HMGB3 Publications for gene HMGB3 were changed from 4998085 to 24993872

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HMGB3 was added gene: HMGB3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: HMGB3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HMGB3 were set to 4998085 Phenotypes for gene: HMGB3 were set to Microphthalmia, syndromic 13, 300915